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pro vyhledávání: '"Kohji Kato"'
Autor:
Alan R. Lehmann, Jenny Morton, Yuichiro Hara, Tomoo Ogi, Seiji Mizuno, Kohji Kato, Miho Toyama, Evangeline Wasmer
Publikováno v:
American Journal of Medical Genetics Part A. 185:282-285
The NSUN2 gene encodes a tRNA cytosine methyltransferase that functions in the maturation of leucyl tRNA (Leu) (CAA) precursors, which is crucial for the anticodon-codon pairing and correct translation of mRNA. Biallelic loss of function variants in
Autor:
Tadashi Kaname, Shinji Saitoh, Naoya Yamaguchi, Kohji Kato, Ayako Hattori, Kyoko Ban, Yuji Nakamura, Atsushi Suzuki, Yusuke Okuno, Yoshiyuki Takahashi, Hideki Muramatsu
Publikováno v:
Brain and Development. 42:298-301
Mucolipidosis type IV (MLIV) is a rare lysosomal storage disorder causing severe psychomotor developmental delay and progressive visual impairment. MLIV is an autosomal recessive disease caused by mutations in MCOLN1, which encodes for mucolipin-1. H
Autor:
Akio Kihara, Tadashi Kaname, Masahiro Kawaguchi, Yusuke Okuno, Kohji Kato, Hideki Muramatsu, Tomohiko Nakata, Hiroyuki Yamamoto, Hiroyuki Kidokoro, Jun Natsume, Takayuki Sassa
Publikováno v:
Brain and Development. 42:217-221
FA2H encodes fatty acid 2-hydroxylase, which plays a significant role in maintaining the neuronal myelin sheath. Previous reports have revealed that a FA2H mutation leads to spastic paraplegia, leukodystrophy, and neurodegeneration with brain iron ac